Genomes and Genes
Experts and Doctors on genetic predisposition to disease in Philadelphia, Pennsylvania, United States
Locale: Philadelphia, Pennsylvania, United States
Topic: genetic predisposition to disease
Publications257 found, 100 shown here
- Criner G, Cordova F, Sternberg A, Martinez F. The National Emphysema Treatment Trial (NETT): Part I: Lessons learned about emphysema. Am J Respir Crit Care Med. 2011;184:763-70 pubmed publisher..Herein, we provide a summary of the major NETT findings that provide insight into the evaluation and medical treatment of emphysema. ..
- Cheung M, Talarchek J, Schindeler K, Saraiva E, Penney L, Ludman M, et al. Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma. Cancer Genet. 2013;206:206-10 pubmed publisher..In addition, a review of BAP1 cancer syndrome families reported to date indicates that the location of the BAP1 mutation does not have any bearing on the spectrum of cancer types observed, either for mesothelial or melanocytic tumors...
- Sun X, Chandar A, Canto M, Thota P, Brock M, Shaheen N, et al. Genomic regions associated with susceptibility to Barrett's esophagus and esophageal adenocarcinoma in African Americans: The cross BETRNet admixture study. PLoS ONE. 2017;12:e0184962 pubmed publisher..Hypothesizing that this racial disparity in prevalence might represent a genetic susceptibility, we used an admixture mapping approach to interrogate disease association with genomic differences between European and African ancestry...
- Lohoff F, Dahl J, Ferraro T, Arnold S, Gallinat J, Sander T, et al. Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder. Neuropsychopharmacology. 2006;31:2739-47 pubmed..Additional studies are necessary to confirm this effect and to elucidate the role of VMAT1 in central nervous system physiology. ..
- Sleiman P, Hakonarson H. Recent advances in the genetics and genomics of asthma and related traits. Curr Opin Pediatr. 2010;22:307-12 pubmed publisher..In this review we summarize the most pertinent of these advances. ..
- Zhao J, Deliard S, Aziz A, Grant S. Expression analyses of the genes harbored by the type 2 diabetes and pediatric BMI associated locus on 10q23. BMC Med Genet. 2012;13:89 pubmed publisher..This locus on 10q23 harbors three genes, encoding hematopoietically expressed homeobox (HHEX), insulin-degrading enzyme (IDE) and kinesin family member 11 (KIF11), respectively...
- Pattaro C, Teumer A, Gorski M, Chu A, Li M, Mijatovic V, et al. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun. 2016;7:10023 pubmed publisher..These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways. ..
- Wang S, Huo D, Ogundiran T, Ojengbede O, Zheng W, Nathanson K, et al. Association of breast cancer risk and the mTOR pathway in women of African ancestry in 'The Root' Consortium. Carcinogenesis. 2017;38:789-796 pubmed publisher..914. These results provide new insights on the biological relevance of the mTOR pathway in breast cancer progression and underscore the need for more genetic epidemiology studies of breast cancer in the African Diaspora. ..
- Vuyyuru R, Mohan C, Manser T, Rahman Z. The lupus susceptibility locus Sle1 breaches peripheral B cell tolerance at the antibody-forming cell and germinal center checkpoints. J Immunol. 2009;183:5716-27 pubmed publisher..Sle1 mice. Together, these data indicate that Sle1 perturbs the action of peripheral tolerance checkpoints operative on antinuclear Ag B cells in both the AFC and GC pathways in a cell autonomous fashion. ..
- Sriram U, Varghese L, Bennett H, Jog N, Shivers D, Ning Y, et al. Myeloid dendritic cells from B6.NZM Sle1/Sle2/Sle3 lupus-prone mice express an IFN signature that precedes disease onset. J Immunol. 2012;189:80-91 pubmed publisher..We propose that Sle1,2,3 mice are useful tools to study the role of the IFN signature in lupus pathogenesis. ..
- Diskin S, Capasso M, Schnepp R, Cole K, Attiyeh E, Hou C, et al. Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nat Genet. 2012;44:1126-30 pubmed publisher..008 and 0.014, respectively). Taken together, these data show that common variants in HACE1 and LIN28B influence neuroblastoma susceptibility and indicate that both genes likely have a role in disease progression...
- Lee J, Goldman D, Piliero L, Petri M, Sullivan K. Interferon-gamma polymorphisms in systemic lupus erythematosus. Genes Immun. 2001;2:254-7 pubmed..Allele 2 appeared to be protective for arthritis. This suggests that genetic variation in interferon-gamma expression might influence the disease course. ..
- Kanetsky P, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck T. A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am J Hum Genet. 2002;70:770-5 pubmed..This is the first report of an association of ASIP with specific human pigmentation characteristics. It remains to be investigated whether the interaction of MC1R and ASIP can enhance prediction of human pigmentation and melanoma risk. ..
- Chen X, Weaver J, Bove B, Vanderveer L, Weil S, Miron A, et al. Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk. Hum Mol Genet. 2008;17:1336-48 pubmed publisher..02 and P < 0.02, respectively). In conclusion, we have found that AI affecting BRCA1 and to a lesser extent BRCA2 may contribute to both familial and non-familial forms of breast cancer. ..
- Lee E, Lee V, Trojanowski J. Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration. Nat Rev Neurosci. 2011;13:38-50 pubmed publisher..In addition, the distinct possibility of pleotropic or combined effects - in which gains of toxic properties and losses of normal TDP43 functions act together - needs to be considered. ..
- Doyle G, Lai A, Chou A, Wang M, Gai X, Rappaport E, et al. Re-sequencing of ankyrin 3 exon 48 and case-control association analysis of rare variants in bipolar disorder type I. Bipolar Disord. 2012;14:809-21 pubmed publisher..We found no statistically significant association of any of the rare variants detected with BPD-I. Thus, we conclude that rare variants within the re-sequenced structural domains of ANK3 exon 48 do not contribute to BPD-I. ..
- Smith C, Saftlas A, Spracklen C, Triche E, Bjonnes A, Keating B, et al. Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia. Am J Hypertens. 2016;29:17-24 pubmed publisher..GRSs for hypertension and blood pressure are not associated with preeclampsia, suggesting that an underlying predisposition to essential hypertension is not on the causal pathway of preeclampsia. ..
- Goulet S, Giger U, Arsenault J, Abrams Ogg A, Euler C, Blais M. Prevalence and Mode of Inheritance of the Dal Blood Group in Dogs in North America. J Vet Intern Med. 2017;31:751-758 pubmed publisher..Extended Dal typing is recommended in those breeds and in dogs when blood incompatibility problems arise after initial transfusions. ..
- Waisbourd Zinman O, Surrey L, Schwartz A, Russo P, Wen J. A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2. Ann Hepatol. 2017;16:465-468 pubmed publisher..C68Y and p.R832H. Medical treatment typical for PFIC2 has not been necessary for either patient. This is the first report of these variants following a mild course in two affected patients. ..
- Noorchashm H, Lieu Y, Noorchashm N, Rostami S, Greeley S, Schlachterman A, et al. I-Ag7-mediated antigen presentation by B lymphocytes is critical in overcoming a checkpoint in T cell tolerance to islet beta cells of nonobese diabetic mice. J Immunol. 1999;163:743-50 pubmed..Overall, this work indicates that the full expression of the autoimmune potential of anti-islet T cells in NOD mice is intimately regulated by B cell-mediated MHC class II Ag presentation. ..
- Stewart D, von Allmen D. The genetics of Hirschsprung disease. Gastroenterol Clin North Am. 2003;32:819-37, vi pubmed
- Padigel U, Farrell J. Control of infection with Leishmania major in susceptible BALB/c mice lacking the common gamma-chain for FcR is associated with reduced production of IL-10 and TGF-beta by parasitized cells. J Immunol. 2005;174:6340-5 pubmed..Together, these results suggest that uptake of opsonized parasites via FcgammaRs may be a strong in vivo stimulus for the production of anti-inflammatory cytokines that play a role in susceptibility to infection. ..
- Quinn W, Noorchashm N, Crowley J, Reed A, Noorchashm H, Naji A, et al. Cutting edge: impaired transitional B cell production and selection in the nonobese diabetic mouse. J Immunol. 2006;176:7159-64 pubmed..These findings suggest that compromised TR B cell generation in NOD mice yields relaxed TR selection, affording autoreactive specificities access to mature pools. ..
- Berrettini W, Yuan X, Tozzi F, Song K, Francks C, Chilcoat H, et al. Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking. Mol Psychiatry. 2008;13:368-73 pubmed publisher..These results (in three independent populations of European origin, totaling approximately 15 000 individuals) suggest that a common haplotype in the CHRNA5/CHRNA3 gene cluster on chromosome 15 contains alleles, which predispose to ND. ..
- Maris J, Mosse Y, Bradfield J, Hou C, Monni S, Scott R, et al. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med. 2008;358:2585-93 pubmed publisher..02), amplification of the MYCN oncogene in the tumor cells (P=0.006), and disease relapse (P=0.01). A common genetic variation at chromosome band 6p22 is associated with susceptibility to neuroblastoma. ..
- Gabriel C, Tigges Cardwell J, Stopfer J, Erlichman J, Nathanson K, Domchek S. Use of total abdominal hysterectomy and hormone replacement therapy in BRCA1 and BRCA2 mutation carriers undergoing risk-reducing salpingo-oophorectomy. Fam Cancer. 2009;8:23-8 pubmed publisher..In this single institution study, the majority of BRCA1/2 mutation carriers undergoing RRSO also underwent TAH, and a substantial number took HRT. TAH did not increase the likelihood of taking HRT compared to RRSO alone. ..
- Wescott M, Rustgi A. Pancreatic cancer: translating lessons from mouse models and hereditary syndromes. Cancer Prev Res (Phila). 2008;1:503-6 pubmed publisher..These preclinical models and clinical syndromes provide the first tangible basis for progress in screening and prevention in high-risk populations and in the development of molecular diagnostics and experimental therapeutics. ..
- Van Deerlin V, Sleiman P, Martinez Lage M, Chen Plotkin A, Wang L, Graff Radford N, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet. 2010;42:234-9 pubmed publisher..TMEM106B variants also contribute to genetic risk for FTLD-TDP in individuals with mutations in GRN. Our data implicate variants in TMEM106B as a strong risk factor for FTLD-TDP, suggesting an underlying pathogenic mechanism. ..
- Kang B, Tavecchio M, Goel H, Hsieh C, Garlick D, Raskett C, et al. Targeted inhibition of mitochondrial Hsp90 suppresses localised and metastatic prostate cancer growth in a genetic mouse model of disease. Br J Cancer. 2011;104:629-34 pubmed publisher..Selective targeting of mitochondrial Hsp90 could provide novel molecular therapy for patients with advanced prostate cancer. ..
- Teumer A, Tin A, Sorice R, Gorski M, Yeo N, Chu A, et al. Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. Diabetes. 2016;65:803-17 pubmed publisher..Relative expression of RAB38 was higher in tubuli of patients with diabetic kidney disease compared with control subjects. The loci identified here confirm known pathways and highlight novel pathways influencing albuminuria. ..
- Das R, Loughran K, Murchison C, Qian F, Leng L, Song Y, et al. Association between high expression macrophage migration inhibitory factor (MIF) alleles and West Nile virus encephalitis. Cytokine. 2016;78:51-4 pubmed publisher..008) more likely to have WNV encephalitis. These data indicate that MIF is an important determinant of severity of WNV neuropathogenesis and may be a therapeutic target. ..
- Sung L, Dix D, Cellot S, Gillmeister B, Ethier M, Roslin N, et al. Single nucleotide polymorphism in IL1B is associated with infection risk in paediatric acute myeloid leukaemia. Clin Microbiol Infect. 2016;22:563.e9-563.e17 pubmed publisher..We identified SNPs associated with infection risk in paediatric AML. Genotype may provide insight into mechanisms of infection risk that could be used for supportive-care novel treatments. ..
- Jin S, Homsy J, Zaidi S, Lu Q, Morton S, Depalma S, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017;49:1593-1601 pubmed publisher..DNMs in ∼440 genes were inferred to contribute to CHD. Striking overlap between genes with damaging DNMs in probands with CHD and autism was also found. ..
- Kluijtmans L, Young I, Boreham C, Murray L, McMaster D, McNulty H, et al. Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults. Blood. 2003;101:2483-8 pubmed..These data underscore the potential benefits that may be gained by improving the dietary status of young adults, and provide support for the implementation of folate/B-vitamin food fortification programs. ..
- Uitto J, Richard G. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol. 2005;23:33-40 pubmed..This information has formed a basis for refined molecular classification with prognostic implications, improved genetic counseling, and prenatal and preimplantation genetic diagnosis. ..
- Dahl J, Weller A, Kampman K, Oslin D, Lohoff F, Ferraro T, et al. Confirmation of the association between a polymorphism in the promoter region of the prodynorphin gene and cocaine dependence. Am J Med Genet B Neuropsychiatr Genet. 2005;139B:106-8 pubmed
- Gai X, Xie H, Perin J, Takahashi N, Murphy K, Wenocur A, et al. Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry. 2012;17:402-11 pubmed publisher..These results implicate several new variants that involve synaptic function and glutamatergic signaling processes as important contributors of ASD pathophysiology and suggest a sizable pool of additional potential ASD risk loci. ..
- Papachristou C, Ober C, Abney M. Genetic variance components estimation for binary traits using multiple related individuals. Genet Epidemiol. 2011;35:291-302 pubmed publisher..Implementation of our method to data from a pedigree of 491 Hutterites evaluated for Type 2 diabetes (T2D) reveal evidence of a strong genetic component to T2D risk, particularly for younger and leaner cases. ..
- Christie J, Wurfel M, Feng R, O Keefe G, Bradfield J, Ware L, et al. Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma. PLoS ONE. 2012;7:e28268 pubmed publisher..This study supports the feasibility of future multi-center GWA investigations of ALI risk, and identifies PPFIA1 as a potential functional candidate ALI risk gene for future research. ..
- Morley J, Xie S, Hurtig H, Stern M, Colcher A, Horn S, et al. Genetic influences on cognitive decline in Parkinson's disease. Mov Disord. 2012;27:512-8 pubmed publisher..Clinically, these results suggest that genotyping can provide information about the risk of future cognitive decline for PD patients. ..
- Finkelman B, Rubinstein W, Friedman S, Friebel T, Dubitsky S, Schonberger N, et al. Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. J Clin Oncol. 2012;30:1321-8 pubmed publisher..In particular, 6174delT carriers had a lower risk of breast cancer. This finding requires additional confirmation in larger prospective and population-based cohort studies before being integrated into clinical care. ..
- Meyer N, Feng R, Li M, Zhao Y, Sheu C, Tejera P, et al. IL1RN coding variant is associated with lower risk of acute respiratory distress syndrome and increased plasma IL-1 receptor antagonist. Am J Respir Crit Care Med. 2013;187:950-9 pubmed publisher..The IL1RN SNP rs315952C is associated with decreased risk of ARDS in three populations with heterogeneous ARDS risk factors, and with increased plasma IL1RA response. IL1RA may attenuate ARDS risk. ..
- Sobota R, Stein C, Kodaman N, Scheinfeldt L, Maro I, Wieland Alter W, et al. A Locus at 5q33.3 Confers Resistance to Tuberculosis in Highly Susceptible Individuals. Am J Hum Genet. 2016;98:514-524 pubmed publisher..Our results also indicate that studying extreme disease resistance in the face of extensive exposure can increase the power to detect associations in complex infectious disease. ..
- Day F, Thompson D, Helgason H, Chasman D, Finucane H, Sulem P, et al. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nat Genet. 2017;49:834-841 pubmed publisher..In aggregate, our findings highlight the complexity of the genetic regulation of puberty timing and support causal links with cancer susceptibility. ..
- McCormack S, Li D, Kim Y, Lee J, Kim S, Rapaport R, et al. Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome. J Clin Endocrinol Metab. 2017;102:2501-2507 pubmed publisher..In cases of hypopituitarism in which there is incomplete segregation of a monogenic genotype with the phenotype, the possibility that a second genetic locus is involved should be considered. ..
- Huang K, Marcora E, Pimenova A, Di Narzo A, Kapoor M, Jin S, et al. A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease. Nat Neurosci. 2017;20:1052-1061 pubmed publisher..Our results suggest that lower SPI1 expression reduces AD risk by regulating myeloid gene expression and cell function. ..
- Zeigler Johnson C, Walker A, Mancke B, Spangler E, Jalloh M, McBride S, et al. Ethnic differences in the frequency of prostate cancer susceptibility alleles at SRD5A2 and CYP3A4. Hum Hered. 2002;54:13-21 pubmed..Future studies should address whether allele frequency differences in part explain differences in prostate cancer incidence in these populations. ..
- Audrain McGovern J, Lerman C, Wileyto E, Rodriguez D, Shields P. Interacting effects of genetic predisposition and depression on adolescent smoking progression. Am J Psychiatry. 2004;161:1224-30 pubmed..This effect is potentiated by depression symptoms. These effects appear to be specific to adolescents who have had at least some nicotine exposure (i.e., at least a puff of a cigarette). ..
- Leibowitz K, Chang G, Pamy P, Hill J, Gayles E, Leibowitz S. Weight gain model in prepubertal rats: prediction and phenotyping of obesity-prone animals at normal body weight. Int J Obes (Lond). 2007;31:1210-21 pubmed..Prepubertal weight gain can identify OP rats on day 35 when they have minimal body fat but exhibit specific metabolic and neurochemical disturbances expected to promote obesity and characteristics of already-obese adult rats. ..
- Doyle G, Furlong P, Schwebel C, Smith G, Lohoff F, Buono R, et al. Fine mapping of a major QTL influencing morphine preference in C57BL/6 and DBA/2 mice using congenic strains. Neuropsychopharmacology. 2008;33:2801-9 pubmed publisher..10 (which harbors Oprm1) between the acromere and Stxbp5, as well as on distal Chr. 6 between marker D6Mit10 and the telomere. ..
- Grant S, Qu H, Bradfield J, Marchand L, Kim C, Glessner J, et al. Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes. 2009;58:290-5 pubmed publisher..The two genes at these respective loci, UBASH3A and BACH2, are both biologically relevant to autoimmunity. ..
- Kamath V, Moberg P, Kohler C, Gur R, Turetsky B. Odor hedonic capacity and anhedonia in schizophrenia and unaffected first-degree relatives of schizophrenia patients. Schizophr Bull. 2013;39:59-67 pubmed publisher..We also examine odor valence processing unirhinally, rather than birhinally, to probe possible lateralized differences in patients' hedonic processing deficits...
- Latorre V, Diskin S, Diamond M, Zhang H, Hakonarson H, Maris J, et al. Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans. Cancer Epidemiol Biomarkers Prev. 2012;21:658-63 pubmed publisher..Extension of GWAS to populations of African descent is important to confirm their results and validity beyond the European populations and can help to refine the location of the putative causal variants. ..
- Schellenberg G, Montine T. The genetics and neuropathology of Alzheimer's disease. Acta Neuropathol. 2012;124:305-23 pubmed publisher..Together, these discoveries point toward a new era in neurodegenerative disease research that impacts not only AD but also related illnesses that produce cognitive and behavioral deficits. ..
- Knudsen E, O Reilly E, Brody J, Witkiewicz A. Genetic Diversity of Pancreatic Ductal Adenocarcinoma and Opportunities for Precision Medicine. Gastroenterology. 2016;150:48-63 pubmed publisher..We review the latest findings in pancreatic cancer genetics and the promise of targeted approaches in PDA therapy. ..
- Bagur R, Hajnoczky G. Intracellular Ca2+ Sensing: Its Role in Calcium Homeostasis and Signaling. Mol Cell. 2017;66:780-788 pubmed publisher..Here we attempt to place these new developments in the context of intracellular calcium homeostasis and signaling. ..
- Berrettini W, Vuoristo J, Ferraro T, Buono R, Wildenauer D, Ala Kokko L. Human G(olf) gene polymorphisms and vulnerability to bipolar disorder. Psychiatr Genet. 1998;8:235-8 pubmed
- Winton M, Van Deerlin V, Kwong L, Yuan W, Wood E, Yu C, et al. A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro. FEBS Lett. 2008;582:2252-6 pubmed publisher..Thus, A90V may be a genetic risk factor for FTLD/ALS because it predisposes nuclear TDP-43 to redistribute to the cytoplasm and form pathological aggregates. ..
- Sapienza C, Lee J, Powell J, Erinle O, Yafai F, Reichert J, et al. DNA methylation profiling identifies epigenetic differences between diabetes patients with ESRD and diabetes patients without nephropathy. Epigenetics. 2011;6:20-8 pubmed
- Baldassarre G, Fedele M, Battista S, Vecchione A, Klein Szanto A, Santoro M, et al. Onset of natural killer cell lymphomas in transgenic mice carrying a truncated HMGI-C gene by the chronic stimulation of the IL-2 and IL-15 pathway. Proc Natl Acad Sci U S A. 2001;98:7970-5 pubmed..Therefore, the HMGI-C/T-mediated chronic stimulation of the IL-2/IL-15 pathway could be responsible for the onset of NK-T/NK cell lymphomas in HMGI-C/T TG mice. ..
- Hughes C, Lerman C, Schwartz M, Peshkin B, Wenzel L, Narod S, et al. All in the family: evaluation of the process and content of sisters' communication about BRCA1 and BRCA2 genetic test results. Am J Med Genet. 2002;107:143-50 pubmed
- Lohoff F, Weller A, Bloch P, Nall A, Ferraro T, Kampman K, et al. Association between the catechol-O-methyltransferase Val158Met polymorphism and cocaine dependence. Neuropsychopharmacology. 2008;33:3078-84 pubmed publisher..Additional studies are required to elucidate the role of COMT in the pathophysiology of substance use disorders. ..
- Grochowski C, Loomes K, Spinner N. Jagged1 (JAG1): Structure, expression, and disease associations. Gene. 2016;576:381-4 pubmed publisher..Expression and conditional gene knockout studies of JAG1 (Jag1) have correlated with tissue-specific disease phenotypes and have provided insight into both disease pathogenesis and human development. ..
- Martin A, Athanasiadis G, Greshock J, Fisher J, Lux M, Calzone K, et al. Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes. Hum Hered. 2003;55:171-8 pubmed..These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer. ..
- Yeo T, Lowenfels A. Demographics and epidemiology of pancreatic cancer. Cancer J. 2012;18:477-84 pubmed publisher..Associations with human immunodeficiency virus, ABO blood group, hepatitis B virus, human immunodeficiency virus, and Helicobacter pylori have also been identified. ..
- Xia S, Pressey J, Barr F. Molecular pathogenesis of rhabdomyosarcoma. Cancer Biol Ther. 2002;1:97-104 pubmed..Therefore, despite similarities in the downstream targets of these genetic alterations, the striking cytogenetic and molecular differences between ARMS and ERMS indicate distinct molecular etiologies in these two subtypes. ..
- Decman V, Laidlaw B, DiMenna L, Abdulla S, Mozdzanowska K, Erikson J, et al. Cell-intrinsic defects in the proliferative response of antiviral memory CD8 T cells in aged mice upon secondary infection. J Immunol. 2010;184:5151-9 pubmed publisher..Thus, the poor proliferative potential of memory T cells and altered memory CD8 T cell differentiation could underlie age-related defects in antiviral immunity...
- Zheng Y, Jost M, Gaughan J, Class R, Coyle A, Monestier M. ICOS-B7 homologous protein interactions are necessary for mercury-induced autoimmunity. J Immunol. 2005;174:3117-21 pubmed..Taken together, these results indicate that the ICOS-B7h costimulation pathway is required for this autoimmune syndrome and suggest that targeting this pathway might have therapeutic benefits for human autoimmune diseases. ..
- Blankenhorn E, Rodemich L, Martin Fernandez C, Leif J, Greiner D, Mordes J. The rat diabetes susceptibility locus Iddm4 and at least one additional gene are required for autoimmune diabetes induced by viral infection. Diabetes. 2005;54:1233-7 pubmed
- Clarke T, AMBROSE LANCI L, Ferraro T, Berrettini W, Kampman K, Dackis C, et al. Genetic association analyses of PDYN polymorphisms with heroin and cocaine addiction. Genes Brain Behav. 2012;11:415-23 pubmed publisher..These data show that polymorphisms in PDYN are associated with opioid addiction in EAs and provide further evidence that these risk variants may be more relevant in females. ..
- Uitto J, Pulkkinen L, Ringpfeil F. Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?. Trends Mol Med. 2001;7:13-7 pubmed
- Seeber B, Driscoll D. Hereditary breast and ovarian cancer syndrome: should we test adolescents?. J Pediatr Adolesc Gynecol. 2004;17:161-7 pubmed
- Lohoff F, Bloch P, Weller A, Ferraro T, Berrettini W. Association analysis of the pituitary adenylate cyclase-activating polypeptide (PACAP/ADCYAP1) gene in bipolar disorder. Psychiatr Genet. 2008;18:53-8 pubmed publisher..Our results provide no evidence of an association of the PACAP gene with BPD in this group of patients and controls. Additional studies are necessary to elucidate the BPD susceptibility locus on chromosome 18p. ..
- Palma M, Domchek S, Stopfer J, Erlichman J, Siegfried J, Tigges Cardwell J, et al. The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res. 2008;68:7006-14 pubmed publisher..Whereas these findings should be confirmed in larger sample sets, our data suggest that genomic rearrangement testing be considered in all non-Ashkenazi Jewish women with an estimated mutation prevalence >or=10%. ..
- Coughlin C, Ficicioglu C. Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2010;33 Suppl 3:S129-31 pubmed publisher..848T>C, c.342+1G>C genotype. Genotype alone remains limited in its predictive ability to determine which affected individuals are at risk for fatal complications. ..